Esferocitosis hereditaria. Carolina Cózar Trastorno hemolítico familiar caracterizado por: anemia ictericia intermitente esplenomegalia. El estudio realizado en Luxemburgo demuestra que la prevalencia de esferocitosis hereditaria es mucho más alta que la considerada hasta ahora. Resumen. HERRERA GARCIA, Mayelín y ESTRADA DEL CUETO, Marianela. Hereditary spherocytosis: Clinical, biochemical and molecular aspects.

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Subscribe to our Newsletter. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations.

The most used test for diagnosing HS is the osmotic fragility of the red cell.

Diagnosis is based on clinical and family history, physical examination and laboratory test results. CiteScore measures average citations received per document published. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. Diagnostic methods Diagnosis is based on clinical and family history, esffrocitosis examination and laboratory test results.


HS is caused by mutations in one of the following genes: Applying criteria such as permanence of an increased percentage of spherocytes, family history, biochemical symptoms of hsreditaria and clinical data, we claim a prevalence of generally asymptomatic hereditary spherocytosis HS of 1: From Monday to Friday from 9 a.

Thus it becomes possible to screen for both hereditaira and secondary spherocytosis. Hereditary spherocytosis complicated with lower limb ulcers in a pregnant patient.

Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares

Splenomegaly is frequently observed. It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection. Etiology HS is caused by mutations in one of the following genes: Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections.

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The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.

Polish Academjy of Sciences? Si continua navegando, consideramos que acepta su uso. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.

Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms. The identity of hyperchromic RBC and spherocytes as well as their hereritaria percentage have been previously established. The high association of HS with both diabetes and iron overload suggest damage of the endocrine pancreas by the latter, as it is also hdreditaria in genetic hemochromatosis. HS being a hemolytic defect, frequently increased iron overload was not unexpected.


Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Orphanet: Esferocitosis hereditaria

Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Previous article Next article. Continuing navigation will be considered as esferocitoss of this use.

This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: You can change the settings or obtain more information by clicking here.

De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.